title: Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
abstract: Left ventricular noncompaction (LVNC) is a relatively common genetic cardiomyopathy, characterized by prominent trabeculations with deep intertrabecular recesses in mainly the left ventricle. Although LVNC often occurs in an isolated entity, it may also be present in various types of congenital heart disease (CHD). The most prevalent CHD in LVNC is Ebstein anomaly, which is a rare form of CHD characterized by apical displacement and partial fusion of the septal and posterior leaflet of the tricuspid valve with the ventricular septum. Several reports of sporadic as well as familial cases of Ebstein anomaly associated with LVNC have been reported. Recent studies identified mutations in the MYH7 gene, encoding the sarcomeric β-myosin heavy chain protein, in patients harboring this specific phenotype. Here, we will review the association between Ebstein anomaly, LVNC and mutations in MYH7, which seems to represent a subtype of Ebstein anomaly with autosomal dominant inheritance and variable penetrance.
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Alexa M C
authors.initials: AM
authors.lastname: Vermeer
authors.forename: Klaartje
authors.initials: K
authors.lastname: van Engelen
authors.forename: Alex V
authors.initials: AV
authors.lastname: Postma
authors.forename: Marieke J H
authors.initials: MJ
authors.lastname: Baars
authors.forename: Imke
authors.initials: I
authors.lastname: Christiaans
authors.forename: Simone
authors.initials: S
authors.lastname: De Haij
authors.forename: Sabine
authors.initials: S
authors.lastname: Klaassen
authors.forename: Barbara J M
authors.initials: BJ
authors.lastname: Mulder
authors.forename: Bernard
authors.initials: B
authors.lastname: Keavney
mesh_terms: D024722:Cardiac Myosins / Q000235:genetics*; D004437:Ebstein Anomaly / Q000150:complications / Q000235:genetics*; D005799:Genes, Dominant; D006352:Heart Ventricles / Q000002:abnormalities*; D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000150:complications / Q000235:genetics*; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010641:Phenotype
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains
keywords: Ebstein anomaly; MYH7; cardiomyopathy; genetics; heart defects, congenital; isolated noncompaction of the left ventricular myocardium